Entity Details
| Primary name |
KDSR_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q06136 |
| EntryName | KDSR_HUMAN |
| FullName | 3-ketodihydrosphingosine reductase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 332 |
| SequenceStatus | complete |
| DateCreated | 1994-06-01 |
| DateModified | 2021-04-07 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum membrane |
Domains
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| Domain | Name | Category | Type |
| IPR002347 | Short-chain dehydrogenase/reductase SDR | Family | Family |
| IPR020904 | Short-chain dehydrogenase/reductase, conserved site | Site | Conserved site |
| IPR036291 | NAD(P)-binding domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 617526 | OMIM | Erythrokeratodermia variabilis et progressiva 4 (EKVP4) | A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
5 interactions